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The University of Chicago

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Dobyns, William

One or more keywords matched the following items that are connected to Dobyns, William

Item Type	Name
Concept	Tubulin
Academic Article	De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
Academic Article	Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Academic Article	TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
Academic Article	Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
Academic Article	Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
Academic Article	Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.
Academic Article	Defining the phenotypical spectrum associated with variants in TUBB2A.
Academic Article	Genotype-phenotype correlation at codon 1740 of SETD2.
Academic Article	Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Academic Article	Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.

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Tubulin